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Rare syndromic craniosynostosis or isolated multisuture synostosis

Gene: ACTG2

No list

ACTG2 (actin, gamma 2, smooth muscle, enteric)
EnsemblGeneIds (GRCh38): ENSG00000163017
EnsemblGeneIds (GRCh37): ENSG00000163017
OMIM: 102545, Gene2Phenotype
ACTG2 is in 11 panels

1 review

Eleanor Williams (Genomics England Curator)

Comment on list classification: Keeping this gene grey as it is not the correct gene for the panel (should be ACTG1).
Created: 22 Jul 2021, 2:27 p.m. | Last Modified: 22 Jul 2021, 2:27 p.m.
Panel Version: 2.31
I think Zorntiza Stark meant to add ACTG1 not ACTG2 for this condition. ACTG1 is associated with Baraitser-Winter syndrome 2 #614583 in OMIM.

ACTG2 is associated with Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 #619431 and Visceral myopathy 1 #155310 in OMIM, neither of which have a craniofacial component to the phenotype.
Created: 22 Jul 2021, 2:26 p.m. | Last Modified: 22 Jul 2021, 2:26 p.m.
Panel Version: 2.30

History Filter Activity

22 Jul 2021, Gel status: 0

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: actg2 has been removed from the panel.

2 Jul 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: ACTG2 was added gene: ACTG2 was added to Craniosynostosis. Sources: Expert list Mode of inheritance for gene: ACTG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ACTG2 were set to Baraitser-Winter syndrome 2, MIM# 614583 Review for gene: ACTG2 was set to GREEN